title: Molecular defects leading to human complement component C6 deficiency in an African-American family.
abstract: Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father.
authors.affiliation: Department of Medicine, University of Alabama at Birmingham, 35294-0006, USA.
authors.forename: Z B
authors.initials: ZB
authors.lastname: Zhu
authors.forename: K
authors.initials: K
authors.lastname: Totemchokchyakarn
authors.forename: T P
authors.initials: TP
authors.lastname: Atkinson
authors.forename: J E
authors.initials: JE
authors.lastname: Volanakis
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044383:Black People / Q000235:genetics; D002648:Child; D003183:Complement C6 / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008585:Meningitis, Meningococcal / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D009345:Neisseria meningitidis / Q000276:immunology / Q000302:isolation & purification*; D010375:Pedigree; D001741:Black or African American
chemical_list: D003183:Complement C6